Biomaterial Database

Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia--a case report. 1990

K C Shah, and D D Umrigar

Department of Dermatology, Government Medical College, Surat, India.

Congenital ectodermal dysplasia is a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. Our patient with classical X-linked anhidrotic ectodermal dysplasia (AED) showed unusual skin manifestations including cafe-au-lait spots on the face, neck, buttock, and lumbo-sacral region; depigmentation of mucous membrane of the lower lip, buccal cavity, and left arm; absence of tragii; plantar keratoderma; and kyphosis of lower cervical and upper thoracic spines which have not been previously reported in the world literature.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D004476	Ectodermal Dysplasia	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.	Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's
D005147	Facial Bones	The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)	Bone, Facial,Bones, Facial,Facial Bone
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012871	Skin Diseases	Diseases involving the DERMIS or EPIDERMIS.	Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D012886	Skull	The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.	Calvaria,Cranium,Calvarium,Skulls
D015776	Keratoderma, Palmoplantar, Diffuse	An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present.	Thost-Unna Syndrome,Tylosis,Unna-Thost Syndrome,Keratosis Palmaris et Plantaris Familiaris,Syndrome, Thost-Unna,Syndrome, Unna-Thost,Thost Unna Syndrome,Unna Thost Syndrome